The aim of the study was to assess whether selected genetic variants are associated with elite athlete performance in a group of 413 elite athletes and 451 sedentary controls. Polymorphisms in ACE, ACTN3, AGT, NRF-2, PGC1A, PPARG, and TFAM implicated in physical performance traits were analyzed. Additionally, polymorphisms in CHRNB3 and FAAH coding for proteins modulating activity of brain's emotion centers were included. The results of univariate analyses indicated that the elite athletic performance is associated with four polymorphisms: ACE (rs4341, P = 0.0095), NRF-2 (rs12594956, P = 0.011), TFAM (rs2306604, P = 0.049), and FAAH (rs324420, P = 0.0041). The multivariate analysis adjusted for age and gender confirmed this association. The higher number of ACE D alleles (P = 0.0021) and the presence of NRF-2 rs12594956 A allele (P = 0.0067) are positive predictors, whereas TFAM rs2306604 GG genotype (P = 0.031) and FAAH rs324420 AA genotype (P = 0.0084) negatively affect the elite athletic performance. The CHRNB3 variant (rs4950, G allele) is significantly more frequent in the endurance athletes compared with the power ones (P = 0.025). Multivariate analysis demonstrated that the presence of rs4950 G allele contributes to endurance performance (P = 0.0047). Our results suggest that genetic inheritance of psychological traits should be taken into consideration while trying to decipher a genetic profile of top athletic performance.
There is mounting evidence that genetic factors located in mitochondrial and nuclear genomes influence sport performance. Certain mitochondrial haplogroups and polymorphisms were associated with the status of elite athlete, especially in endurance performance. The aim of our study was to assess whether selected mitochondrial DNA (mtDNA) and nuclear DNA variants are associated with elite athlete performance in a group of 395 elite Polish athletes (213 endurance athletes and 182 power athletes) and 413 sedentary controls. Our major finding was that the mtDNA haplogroup H and HV cluster influence endurance performance at the Olympic/World Class level of performance (P = 0.018 and P = 0.0185, respectively). We showed that two polymorphisms located in the mtDNA control region were associated with achieving the elite performance level either in the total athlete's group as compared with controls (m.16362C, 3.8% vs 9.2%, respectively, P = 0.0025, odds ratio = 0.39, 95% confidence interval: 0.21-0.72), or in the endurance athletes as compared with controls (m.16080G, 2.35% vs 0%, respectively, P = 0.004). Our results indicate that mtDNA variability affects the endurance capacity rather than the power one. We also propose that mtDNA haplogroups and subhaplogroups, as well as individual mtDNA polymorphisms favoring endurance performance, could be population-specific, reflecting complex cross-talk between nuclear and mitochondrial genomes.
The second-to-fourth-digit (2D:4D) ratio has been widely used as a putative marker of prenatal exposure to testosterone in health, behavioral and sport sciences, but it has only been used few times regarding combat athletes. This study involved 200 male elite combat athletes (Olympic wrestling, kickboxing, judo, taekwondo and karate) and 179 males not participating in any sports. The lengths of the index finger (2D) and ring (4D) finger were measured using computer-assisted image analysis (AutoMetric 2.2 software). The 2D:4D ratio of combat athletes was significantly lower than that of the controls. Moreover, a lower 2D:4D ratio was found among wrestlers, judo athletes and kickboxers than in the control group, and a higher 2D:4D ratio was found, but with borderline significance, among karate and taekwondo athletes. Moreover, multivariate analysis adjusted for age showed that judo, Olympic wrestling and kickboxing athletes combined had 2D:4D ratios significantly lower (by 0.035 on average) than those of the rest of the subjects and that karate and taekwondo athletes together had 2D:4D ratios significantly higher (by 0.014 on average) than those of the rest of the subjects. The research results and literature review indicate that knowledge about the functional meaning of the 2D:4D ratio is still too fragmentary and it is too early to use the 2D:4D ratio in the selection of sport talent; however, it may be a useful criteria when screening prospective athletes to be recruited to a team. That is why 2D:4D reference values should be defined for particular sports.
scite is a Brooklyn-based organization that helps researchers better discover and understand research articles through Smart Citations–citations that display the context of the citation and describe whether the article provides supporting or contrasting evidence. scite is used by students and researchers from around the world and is funded in part by the National Science Foundation and the National Institute on Drug Abuse of the National Institutes of Health.